Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_019083.3
p.A48T
c.142G>A
NM_019083.3
p.A48V
c.143C>T
NM_019083.3
p.A48delins
c.142_143delinsAT
NM_019083.3
p.H140R
c.419A>G
NM_019083.3
p.Q166*
c.496C>T
NM_019083.3
p.T3P
c.7A>C
NM_019083.3
p.T6M
c.17C>T
NM_019083.3
p.P11S
c.31C>T
NM_019083.3
p.R54W
c.160C>T
NM_019083.3
p.V67E
c.200T>A
NM_019083.3
p.Q71*
c.211C>T
NM_019083.3
p.S115C
c.344C>G